DiGeorge综合征:52例病例回顾

作     者：Minier F. Carles D. Pelluard F. 郭战宏 

作者机构：Unit'e de Foetopathologie Service d'Anatomie Pathologique CHU Pellegrin place Am'elie-Raba-L'eon 33076 Bordeaux Cedex France 

出 版 物：《世界核心医学期刊文摘（儿科学分册）》 (Dkgest of the World Latest Medical Information)

年 卷 期：2005年第1卷第7期

页      面：13-13页

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

主　　题：DiGeorge 出生前诊断 肾脏畸形 面部畸形 心脏畸形 微缺失 病理学检查 表现型 缩略词 婴儿期 

摘      要：The deletion of chromosome 22q11.2 is involved in the majority of DiGeorge or velo-cardiofacial *** phenotypic variability was noted in the “CATCH 22*** acronym doesn’t recapitulate the full spectrum of the *** diagnosis of this syndrome can be done with the prenatal diagnosis, with fetal pathology or with a child ***.-Review of 52 cases with the microdeletion 22q11.2 Six cases were diagnosed during the prenatal period, 12 cases at fetal pathology examination, and 34 cases during ***.-Cardiac malformations were the major indications (75%) to search for the *** facial dysmorphy was difficult to diagnose during the antenatal period or in dead foetus, thereby it was not often *** renal anomalies usually present in 35%of cases, were diagnosed in only 6 to 16%of the cases in our ***.-Phenotypic diversity of the DiGeorge syndrome is *** knowledge allows to better determine the indications of the research of the microdeletion.22q11.2.